TRPV4 - transient receptor potential cation channel subfamily V member 4 Gene

Also Known as SMAL; VRL2; BCYM3; CMT2C; SPSMA; TRP12; VROAC; HMSN2C; OTRPC4; SSQTL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 59341

About TRPV4

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,783,087-109,833,398 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 23 phenotypes. Broad expression in kidney (RPKM 5.7), salivary gland (RPKM 3.0) and 14 other tissues.

Summary

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

TRPV4 Products (5)

mRNA	Protein	Name
NM_001177428.1	NP_001170899.1	transient receptor potential cation channel subfamily V member 4 isoform e
NM_001177431.1	NP_001170902.1	transient receptor potential cation channel subfamily V member 4 isoform d
NM_001177433.1	NP_001170904.1	transient receptor potential cation channel subfamily V member 4 isoform c
NM_021625.5	NP_067638.3	transient receptor potential cation channel subfamily V member 4 isoform a
NM_147204.2	NP_671737.1	transient receptor potential cation channel subfamily V member 4 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel activity	IDA IDA: Inferred from direct assay	18458941	GOA
enables calmodulin binding	IMP IMP: Inferred from mutant phenotype	12724311	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	26146187	GOA
enables monoatomic cation channel activity	IDA IDA: Inferred from direct assay	12724311	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16293632	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	12538589	GOA
enables stretch-activated, monoatomic cation-selective, calcium channel activity	IMP IMP: Inferred from mutant phenotype	23136043	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in blood vessel endothelial cell delamination	IMP IMP: Inferred from mutant phenotype	23136043	GOA
involved in calcium ion import into cytosol	IDA IDA: Inferred from direct assay	29899501	GOA
involved in calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	23136043	GOA
involved in calcium ion transport	IDA IDA: Inferred from direct assay	18458941	GOA
involved in cartilage development involved in endochondral bone morphogenesis	IMP IMP: Inferred from mutant phenotype	26249260	GOA
involved in cellular hypotonic response	IMP IMP: Inferred from mutant phenotype	23136043	GOA
involved in intracellular calcium ion homeostasis	IDA IDA: Inferred from direct assay	12724311	GOA
involved in multicellular organismal-level water homeostasis	IMP IMP: Inferred from mutant phenotype	23136043	GOA
involved in positive regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	18458941	GOA
involved in positive regulation of vascular permeability	IMP IMP: Inferred from mutant phenotype	23136043	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	15753126	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPV4 Protein Structure

Ank

Ion_trans

0
200
400
600
800
871 a.a.

Protein Preferred Names	Protein Names
transient receptor potential cation channel subfamily V member 4	OSM9-like transient receptor potential channel 4

TRPV4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TRPV4	Q9HBA0	RAN	Homo sapiens	P62826	Pull Down	24855949
Intra	TRPV4	Q9HBA0	TRPV4	Homo sapiens	Q9HBA0	Anti Tag CoIP	26146187
Intra	TRPV4	Q9HBA0	HIF1AN	Homo sapiens	Q9NWT6	Enzymatic Study	21251231
Intra	TRPV4	Q9HBA0	TRPV4	Homo sapiens	Q9HBA0	FRET	26146187
Intra	TRPV4	Q9HBA0	Agtr1	Rattus norvegicus	P25095	Anti Tag CoIP	32493776

Cross: Cross-species interaction Intra: Intraspecies interaction

TRPV4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810993	TRPV4 Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Metatropic Dysplasia	Metatropic Dwarfism MTD Metatropic Dysplasia Type 1 Metatropic Dysplasia, Nonlethal Dominant
Hereditary Motor And Sensory Neuropathy, Type Iic	CMT2C Charcot-Marie-Tooth Disease Axonal Type 2c HMSN2C Hmsn Iic Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Neuropathy Type 2c Hereditary Motor And Sensory Neuropathy Type Iic Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c Charcot-Marie-Tooth Neuropathy, Type 2c Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease 2c Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c Charcot-Marie-Tooth Disease, Type 2c
Scapuloperoneal Spinal Muscular Atrophy	SPSMA Amyotrophy, Neurogenic Scapuloperoneal, New England Type Neurogenic Scapuloperoneal Amyotrophy, New England Type Scapuloperoneal Neuronopathy Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy Neurogenic Scapuloperoneal New England Type Muscular Atrophy, Spinal Scapuloperoneal Form Of Spinal Muscular Atrophy
Spondylometaphyseal Dysplasia, Kozlowski Type	Spondylometaphyseal Dysplasia Kozlowski Type Jequier Kozlowski Skeletal Dysplasia Smd Kozlowski Type SMDK Dysmorphism Arthrogryposis Skeletal Maturation Advanced Jequier-Kozlowski Syndrome Skeletal Dysplasia Jequier-Kozlowski Type Smd, Kozlowski Type
Neuronopathy, Distal Hereditary Motor, Type Viii	Autosomal Dominant Congenital Benign Spinal Muscular Atrophy HMN8 Dhmn8 Neuropathy, Distal Hereditary Motor, Type Viii Distal Hereditary Motor Neuronopathy Type 8 Autosomal Dominant Benign Distal Spinal Muscular Atrophy Congenital Benign Spinal Muscular Atrophy With Contractures Congenital Nonprogressive Spinal Muscular Atrophy Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Spinal Muscular Atrophy, Congenital Benign, With Contractures Distal Hereditary Motor Neuropathy Type Viii Neuronopathy, Distal Hereditary Motor, 8 Distal Spinal Muscular Atrophy, Congenital Non-Progressive Spinal Muscular Atrophy Congenital Benign With Contractures
Parastremmatic Dwarfism	Parastremmatic Dysplasia PSTD Dwarfism, Parastremmatic
Digital Arthropathy-Brachydactyly, Familial	Familial Digital Arthropathy-Brachydactyly FDAB
Brachyolmia Type 3	Brachyrachia Autosomal Dominant Brachyolmia BCYM3 Brachyolmia, Autosomal Dominant Brachyolmia Autosomal Dominant Brachyolmia 3 Brachyolmia, Type 3
Spondyloepiphyseal Dysplasia, Maroteaux Type	Spondyloepiphyseal Dysplasia Maroteaux Type Pseudo-Morquio Syndrome Type 2 Sed, Maroteaux Type Brachyolmia Type 2 Pseudo-Morquio Syndrome, Type 2 Spondyloepiphyseal Dysplasia Of Maroteaux Brachyolmia Maroteaux Type SEDM Sed Maroteaux Type Dysplasia, Spondyloepiphyseal, Maroteaux Type
Avascular Necrosis Of Femoral Head, Primary, 2	ANFH2 Avascular Necrosis Of The Femoral Head, Primary 2
Sodium Serum Level Quantitative Trait Locus 1	Sodium Serum Level Qtl 1 SSQTL1
Trpv4-Related Bone Disorder
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Familial Avascular Necrosis Of The Femoral Head	Familial Osteonecrosis Of The Femoral Head Primary Avascular Necrosis Of The Femoral Head Familial Avascular Necrosis Of Femoral Head Avascular Necrosis Of Femoral Head, Primary
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Talipes Equinovarus	Congenital Equinovarus Congenital Talipes Equinovarus Equinovarus Congenital Varus Clubfoot
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	CCF Familial Clubfoot Due To 5q31 Microdeletion Familial Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To Pitx1 Point Mutation Hereditary Clubfoot Due To 5q31 Microdeletion Talipes Equinovarus Tev Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Brachyolmia	Brachyrachia
Progressive Muscular Atrophy	Progressive Spinal Muscular Atrophy Pure Progressive Muscular Atrophy Pma Hereditary Spinal Muscle Atrophy Pma - [Progressive Muscular Atrophy] Progressive Muscle Atrophy Progressive Spinal Muscle Atrophy Duchenne-Aran Atrophy Duchenne-Aran Muscle Atrophy Hereditary Sma - [Spinal Muscle Atrophy]
Genetic Motor Neuron Disease	Genetic Anterior Horn Cell Disease
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Avascular Necrosis	Avn
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Pulmonary Edema
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Cystitis	Infective Cystitis Urocystitis Pyocystitis
Diabetic Neuropathy	Diabetic Neuropathies
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Brain Edema	Cerebral Edema Intracranial Swelling Wet Brain
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Familial Episodic Pain Syndrome	Feps
Photoparoxysmal Response 1	Photosensitivity Disease Photodermatitis Photosensitivity Disorders PPR1 Ppr Photosensitivity Photoconvulsive Reaction Epilepsy, Photogenic Photosensitivity Of Skin Dermatitis, Phototoxic
Brachydactyly
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Gamstorp-Wohlfart Syndrome Autosomal Recessive Axonal Neuropathy With Neuromyotonia NMAN Myokymia, Myotonia, And Muscle Wasting Aran-Nm Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia Autosomal Recessive Neuromyotonia And Axonal Neuropathy Arcmt2-Nm Myokymia, Myotonia And Muscle Wasting Myokymia Myotonia And Muscle Wasting Isaacs Syndrome
Oculoectodermal Syndrome	Aplasia Cutis Congenita With Epibulbar Dermoids Toriello-Lacassie-Droste Syndrome Oculoectodermal Syndrome, Somatic OES Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome Oculo-Ectodermal Syndrome Toriello Lacassie Droste Syndrome
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Scoliosis
Presbyopia	Subnormal Accommodation Accommodation Insufficiency Of Old Age
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Autosomal Recessive Pseudohypoaldosteronism Type 1 PHA1B Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism, Type I Generalized Pha1 Generalized Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 Autosomal Recessive Pha1 Pseudohypoaldosteronism Pha I, Autosomal Recessive Autosomal Recessive Pha 1 Pseudohypoaldosteronism Type 1, Recessive Pseudohypoaldosteronism Type I Autosomal Recessive Pha1 Pha Type 1 Pseudohypoaldosteronism 1, Autosomal Recessive Multisystem Pseudohypoaldosteronism Pha Type I, Autosomal Recessive Pseudohypoaldosteronism Type I, Autosomal Recessive
Acute Cystitis	Urinary Tract Infection Recurrent Urinary Tract Infection
Interstitial Cystitis	Bladder Pain Syndrome Painful Bladder Syndrome Ulcerative Cystitis Ic/Bps Ic/Pbs Interstitial Cystitis/Bladder Pain Syndrome Interstitial Cystitis/Painful Bladder Syndrome Cystitis, Interstitial Chronic Interstitial Cystitis Pelvic Congestion Syndrome Trigonitis
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Spastic Paraplegia 76, Autosomal Recessive	SPG76 Autosomal Recessive Spastic Paraplegia Type 76 Hereditary Spastic Paraplegia 76 Autosomal Recessive Spastic Paraplegia 76 Paraplegia, Spastic, Autosomal Recessive, Type 76
Somatoform Disorder	Physiological Malfunction Arising From Mental Factor Psychosomatic Disorder Psychophysiologic Disorders
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
Bone Development Disease
Cerebral Cavernous Malformations	Cerebral Cavernous Malformation Cavernous Malformations Of Cns And Retina Cerebral Cavernous Malformation 1 Cavernous Angiomatous Malformations Cerebral Capillary Malformations CCM Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations Familial Cavernous Angioma Cavernous Angioma Familial Cerebral Cavernous Malformation Cerebral Cavernous Malformations 1 Cavernous Angioma, Familial Cam Cerebral Cavernous Malformations-1 Cavernoma Central Nervous System Cavernous Hemangioma Cerebral Cavernous Hemangioma Familial Cavernous Hemangioma Familial Cavernous Malformation Familial Cerebral Cavernous Angioma Intracerebral Cavernous Hemangioma CCM1 Cavernous Hemangioma Of The Brain Cerebral Cavernoma Cerebral Cavernous Malformations, Type 1 Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous Angioma, Cavernous
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1177	Crotamiton	Inhibitor	98.07%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19765	GSK2798745	Inhibitor	99.80%	Phase 2

Pre-clinical Phase

Bioactive Molecules (26)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19608	GSK1016790A	Agonist	99.93%	Unkown
HY-100208	HC-067047	Antagonist	99.97%	Unkown
HY-100720	GSK2193874	Antagonist	99.91%	Unkown
HY-120691A	GSK205	Antagonist	99.47%	Unkown
HY-18662	RQ-00203078	Antagonist	99.84%	Unkown
HY-19975	RN-1734	Antagonist	99.75%	Unkown
HY-19976	RN-1747	Modulator	99.27%	Unkown
HY-114400	TRPV4 agonist-1 free base	Agonist	99.69%	Unkown
HY-116291	4α-Phorbol 12,13-didecanoate	Agonist	99.30%	Unkown
HY-130573A	DMAPP triammonium	Activator	95.0%	Unkown
HY-160603	PF-05214030	Antagonist	99.81%	Unkown
HY-120962	N-Arachidonoyl Taurine	Activator	99.0%	Unkown
HY-176464	GSK2220691	Inhibitor	99.96%	Unkown
HY-160900	RN-1665	Antagonist	99.93%	Unkown
HY-162765	TRPV4-IN-5	Inhibitor	98.77%	Unkown
HY-120514	JNc-440		98.04%	Unkown
HY-112202	GSK3395879	Antagonist	/	Unkown
HY-142620	TRPV4 antagonist 3	Antagonist	/	Unkown
HY-122692	TRPV4/TRPA1-IN-1	Inhibitor	/	Unkown
HY-178509	TRPV4-KCa2.3 modulator 1	Activator	/	Unkown
HY-149823	TRPV4 antagonist 4	Antagonist	/	Unkown
HY-110270A	RN-9893 hydrochloride	Antagonist	/	Unkown
HY-182455	GSK3527497	Inhibitor	/	Unkown
HY-N2940	Bisandrographolide A	Activator	/	Unkown
HY-W721480	HC-067047 hydrochloride	Antagonist	/	Unkown
HY-181463	20-Hydroxy-N-arachidonoyl taurine	Activator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TRPV4	VGNC	VGNC:79112
Mus musculus	TRPV4	MGD	MGI:1926945
Rattus norvegicus	TRPV4	RGD	RGD:69337
Felis catus	TRPV4	VGNC	VGNC:66598
Bos taurus	TRPV4	VGNC	VGNC:36400
Others	TRPV4	NCBI